AutismKB 2.0

Annotation Detail for DEFA6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DEFA6 ( DEF6,HD-6 )
Gene Full Name: defensin, alpha 6, Paneth cell-specific
Band: 8p23.1
Quick LinksEntrez ID:1671; OMIM: 600471; Uniprot ID:DEF6_HUMAN; ENSEMBL ID: ENSG00000164822; HGNC ID: 2765
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001926
  • Location:chr8 6769630-6771007
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 6773472 6773779 307 2618
CTCF G2GSE9613 6773370 6773737 367 2546
CTCF G2GSE9613 6773991 6774326 335 3151
hScc1 CdLSGSE12603 6773444 6773913 469 2671
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6755230 6755375 145 14328
CTCF G2GSE9613 6764122 6764477 355 5331
FOXA1 DLD1GSE12801 6754563 6755230 667 14734
FOXA1 MCF7GSE15244 6754382 6755597 1215 14641
FoxA1 MCF7MACSdata 6754726 6755058 332 14739
RARA MCF7GSE15244 6754382 6755597 1215 14641
RARG MCF7GSE15244 6754382 6755915 1533 14482
No data
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018